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Details for COL4A4:c.1471C>T, p.Leu491Phe

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
227953521	227088805

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1471C>T

PROTEIN CHANGE

p.Leu491Phe

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.222e-05	0.0	0.0	0.0	0.0004453	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.605293	Disease causing

DBSNP ID

2 combinations linked to COL4A4:c.1471C>T, p.Leu491Phe

2 diseases linked to COL4A4:c.1471C>T, p.Leu491Phe

Benign familial hematuria; Alport syndrome

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